UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26482341C= | CA1239828800 | OTOF | c.1579+65G= (n.1579+65G=) c.1624+65G= (n.1624+65G=) | |
| 2 | g.26482341C>T | CA1239828802 | OTOF | c.1579+65G>A (n.1579+65G>A) c.1624+65G>A (n.1624+65G>A) | dbSNP gnomAD v4 |
| 2 | g.26482342A>G | CA2576699704 | OTOF | c.1579+64T>C (n.1579+64T>C) c.1624+64T>C (n.1624+64T>C) | |
| 2 | g.26482342A>T | CA2576699703 | OTOF | c.1579+64T>A (n.1579+64T>A) c.1624+64T>A (n.1624+64T>A) | |
| 2 | g.26482343C>A | CA2658238747 | OTOF | c.1579+63G>T (n.1579+63G>T) c.1624+63G>T (n.1624+63G>T) | gnomAD v4 |
| 2 | g.26482343C>T | CA2658238748 | OTOF | c.1579+63G>A (n.1579+63G>A) c.1624+63G>A (n.1624+63G>A) | gnomAD v4 |
| 2 | g.26482344A= | CA1239828803 | OTOF | c.1579+62T= (n.1579+62T=) c.1624+62T= (n.1624+62T=) | |
| 2 | g.26482344A>C | CA2698785719 | OTOF | c.1579+62T>G (n.1579+62T>G) c.1624+62T>G (n.1624+62T>G) | dbSNP |
| 2 | g.26482344A>G | CA44401500 | OTOF | c.1579+62T>C (n.1579+62T>C) c.1624+62T>C (n.1624+62T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26482345T>C | CA2658238749 | OTOF | c.1579+61A>G (n.1579+61A>G) c.1624+61A>G (n.1624+61A>G) | gnomAD v4 |
| 2 | g.26482348T>C | CA44401503 | OTOF | c.1579+58A>G (n.1579+58A>G) c.1624+58A>G (n.1624+58A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26482348T= | CA1239828806 | OTOF | c.1579+58A= (n.1579+58A=) c.1624+58A= (n.1624+58A=) | |
| 2 | g.26482349C>A | CA1028610011 | OTOF | c.1579+57G>T (n.1579+57G>T) c.1624+57G>T (n.1624+57G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26482349C= | CA1239828809 | OTOF | c.1579+57G= (n.1579+57G=) c.1624+57G= (n.1624+57G=) | |
| 2 | g.26482350C>A | CA2658238750 | OTOF | c.1579+56G>T (n.1579+56G>T) c.1624+56G>T (n.1624+56G>T) | gnomAD v4 |
| 2 | g.26482350C>T | CA2658238751 | OTOF | c.1579+56G>A (n.1579+56G>A) c.1624+56G>A (n.1624+56G>A) | gnomAD v4 |
| 2 | g.26482351T>G | CA2658238752 | OTOF | c.1579+55A>C (n.1579+55A>C) c.1624+55A>C (n.1624+55A>C) | gnomAD v4 |
| 2 | g.26482352del | CA2749240834 | OTOF | c.1579+55del (n.1579+55del) c.1624+55del (n.1624+55del) | |
| 2 | g.26482354_26482371del | CA2576699705 | OTOF | c.1579+37_1579+54del (n.1579+37_1579+54del) c.1624+37_1624+54del (n.1624+37_1624+54del) | |
| 2 | g.26482353C>T | CA2658238753 | OTOF | c.1579+53G>A (n.1579+53G>A) c.1624+53G>A (n.1624+53G>A) | gnomAD v4 |
| 2 | g.26482354C>A | CA646575479 | OTOF | c.1579+52G>T (n.1579+52G>T) c.1624+52G>T (n.1624+52G>T) | COSMIC |
| 2 | g.26482356T>C | CA2576699706 | OTOF | c.1579+50A>G (n.1579+50A>G) c.1624+50A>G (n.1624+50A>G) | |
| 2 | g.26482358C>A | CA2658238754 | OTOF | c.1579+48G>T (n.1579+48G>T) c.1624+48G>T (n.1624+48G>T) | gnomAD v4 |
| 2 | g.26482359A= | CA1239828810 | OTOF | c.1579+47T= (n.1579+47T=) c.1624+47T= (n.1624+47T=) | |
| 2 | g.26482359A>G | CA767289464 | OTOF | c.1579+47T>C (n.1579+47T>C) c.1624+47T>C (n.1624+47T>C) | dbSNP |
| 2 | g.26482360G>T | CA2576699707 | OTOF | c.1579+46C>A (n.1579+46C>A) c.1624+46C>A (n.1624+46C>A) | gnomAD v4 |
| 2 | g.26482361G>A | CA1028610012 | OTOF | c.1579+45C>T (n.1579+45C>T) c.1624+45C>T (n.1624+45C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26482361G= | CA1239828811 | OTOF | c.1579+45C= (n.1579+45C=) c.1624+45C= (n.1624+45C=) | |
| 2 | g.26482361G>T | CA2658238755 | OTOF | c.1579+45C>A (n.1579+45C>A) c.1624+45C>A (n.1624+45C>A) | gnomAD v4 |
| 2 | g.26482362C>T | CA2658238756 | OTOF | c.1579+44G>A (n.1579+44G>A) c.1624+44G>A (n.1624+44G>A) | gnomAD v4 |
| 2 | g.26482364A= | CA1239828813 | OTOF | c.1579+42T= (n.1579+42T=) c.1624+42T= (n.1624+42T=) | |
| 2 | g.26482364A>T | CA1564228 | OTOF | c.1579+42T>A (n.1579+42T>A) c.1624+42T>A (n.1624+42T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26482365C>T | CA2658238757 | OTOF | c.1579+41G>A (n.1579+41G>A) c.1624+41G>A (n.1624+41G>A) | gnomAD v4 |
| 2 | g.26482368C= | CA1239828816 | OTOF | c.1579+38G= (n.1579+38G=) c.1624+38G= (n.1624+38G=) | |
| 2 | g.26482368C>T | CA1564229 | OTOF | c.1579+38G>A (n.1579+38G>A) c.1624+38G>A (n.1624+38G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482369C>T | CA2576699708 | OTOF | c.1579+37G>A (n.1579+37G>A) c.1624+37G>A (n.1624+37G>A) | gnomAD v4 |
| 2 | g.26482370T>C | CA2576699709 | OTOF | c.1579+36A>G (n.1579+36A>G) c.1624+36A>G (n.1624+36A>G) | |
| 2 | g.26482371C>A | CA1239828818 | OTOF | c.1579+35G>T (n.1579+35G>T) c.1624+35G>T (n.1624+35G>T) | dbSNP |
| 2 | g.26482371C= | CA1239828817 | OTOF | c.1579+35G= (n.1579+35G=) c.1624+35G= (n.1624+35G=) | |
| 2 | g.26482371C>T | CA1564230 | OTOF | c.1579+35G>A (n.1579+35G>A) c.1624+35G>A (n.1624+35G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482373G>A | CA2576699710 | OTOF | c.1579+33C>T (n.1579+33C>T) c.1624+33C>T (n.1624+33C>T) | gnomAD v4 |
| 2 | g.26482373G>T | CA2658238758 | OTOF | c.1579+33C>A (n.1579+33C>A) c.1624+33C>A (n.1624+33C>A) | gnomAD v4 |
| 2 | g.26482373_26482374delinsGC | CA1239828819 | OTOF | c.1579+32_1579+33delinsGC (n.1579+32_1579+33delinsGC) c.1624+32_1624+33delinsGC (n.1624+32_1624+33delinsGC) | |
| 2 | g.26482374C= | CA1239828822 | OTOF | c.1579+32G= (n.1579+32G=) c.1624+32G= (n.1624+32G=) | |
| 2 | g.26482374C>T | CA1564231 | OTOF | c.1579+32G>A (n.1579+32G>A) c.1624+32G>A (n.1624+32G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482379dup | CA531395902 | OTOF | c.1579+32dup (n.1579+32dup) c.1624+32dup (n.1624+32dup) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26482379del | CA1239828823 | OTOF | c.1579+32del (n.1579+32del) c.1624+32del (n.1624+32del) | dbSNP gnomAD v4 |
| 2 | g.26482375C= | CA1239828826 | OTOF | c.1579+31G= (n.1579+31G=) c.1624+31G= (n.1624+31G=) | |
| 2 | g.26482375C>G | CA767289469 | OTOF | c.1579+31G>C (n.1579+31G>C) c.1624+31G>C (n.1624+31G>C) | dbSNP |
| 2 | g.26482375C>T | CA2576699711 | OTOF | c.1579+31G>A (n.1579+31G>A) c.1624+31G>A (n.1624+31G>A) | |
| 2 | g.26482378C>A | CA2749240739 | OTOF | c.1579+28G>T (n.1579+28G>T) c.1624+28G>T (n.1624+28G>T) | |
| 2 | g.26482378C>T | CA2658238759 | OTOF | c.1579+28G>A (n.1579+28G>A) c.1624+28G>A (n.1624+28G>A) | gnomAD v4 |
| 2 | g.26482379C= | CA1239828827 | OTOF | c.1579+27G= (n.1579+27G=) c.1624+27G= (n.1624+27G=) | |
| 2 | g.26482379C>G | CA1564232 | OTOF | c.1579+27G>C (n.1579+27G>C) c.1624+27G>C (n.1624+27G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26482386C>T | CA2658238760 | OTOF | c.1579+20G>A (n.1579+20G>A) c.1624+20G>A (n.1624+20G>A) | gnomAD v4 |
| 2 | g.26482387C>A | CA2658238762 | OTOF | c.1579+19G>T (n.1579+19G>T) c.1624+19G>T (n.1624+19G>T) | gnomAD v4 |
| 2 | g.26482387C= | CA1239828829 | OTOF | c.1579+19G= (n.1579+19G=) c.1624+19G= (n.1624+19G=) | |
| 2 | g.26482387C>G | CA2658238761 | OTOF | c.1579+19G>C (n.1579+19G>C) c.1624+19G>C (n.1624+19G>C) | ClinVar gnomAD v4 |
| 2 | g.26482387C>T | CA1564233 | OTOF | c.1579+19G>A (n.1579+19G>A) c.1624+19G>A (n.1624+19G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482388G>A | CA1564234 | OTOF | c.1579+18C>T (n.1579+18C>T) c.1624+18C>T (n.1624+18C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482388G= | CA1239828832 | OTOF | c.1579+18C= (n.1579+18C=) c.1624+18C= (n.1624+18C=) | |
| 2 | g.26482388G>T | CA2658238763 | OTOF | c.1579+18C>A (n.1579+18C>A) c.1624+18C>A (n.1624+18C>A) | gnomAD v4 |
| 2 | g.26482389G>A | CA2658238764 | OTOF | c.1579+17C>T (n.1579+17C>T) c.1624+17C>T (n.1624+17C>T) | ClinVar gnomAD v4 |
| 2 | g.26482389G>C | CA44401521 | OTOF | c.1579+17C>G (n.1579+17C>G) c.1624+17C>G (n.1624+17C>G) | dbSNP gnomAD v4 |
| 2 | g.26482389G= | CA1239828835 | OTOF | c.1579+17C= (n.1579+17C=) c.1624+17C= (n.1624+17C=) | |
| 2 | g.26482390G>A | CA2658238765 | OTOF | c.1579+16C>T (n.1579+16C>T) c.1624+16C>T (n.1624+16C>T) | gnomAD v4 |
| 2 | g.26482390G>C | CA2698919356 | OTOF | c.1579+16C>G (n.1579+16C>G) c.1624+16C>G (n.1624+16C>G) | dbSNP |
| 2 | g.26482390G>T | CA2697547884 | OTOF | c.1579+16C>A (n.1579+16C>A) c.1624+16C>A (n.1624+16C>A) | ClinVar |
| 2 | g.26482392C= | CA1239828837 | OTOF | c.1579+14G= (n.1579+14G=) c.1624+14G= (n.1624+14G=) | |
| 2 | g.26482392C>G | CA1564235 | OTOF | c.1579+14G>C (n.1579+14G>C) c.1624+14G>C (n.1624+14G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482392C>T | CA1564236 | OTOF | c.1579+14G>A (n.1579+14G>A) c.1624+14G>A (n.1624+14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26482393T>C | CA2658238766 | OTOF | c.1579+13A>G (n.1579+13A>G) c.1624+13A>G (n.1624+13A>G) | ClinVar gnomAD v4 |
| 2 | g.26482394C= | CA1239828841 | OTOF | c.1579+12G= (n.1579+12G=) c.1624+12G= (n.1624+12G=) | |
| 2 | g.26482394C>T | CA531395909 | OTOF | c.1579+12G>A (n.1579+12G>A) c.1624+12G>A (n.1624+12G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482396del | CA2658238767 | OTOF | c.1579+12del (n.1579+12del) c.1624+12del (n.1624+12del) | gnomAD v4 |
| 2 | g.26482396C>A | CA2658238768 | OTOF | c.1579+10G>T (n.1579+10G>T) c.1624+10G>T (n.1624+10G>T) | gnomAD v4 |
| 2 | g.26482396C= | CA1239828843 | OTOF | c.1579+10G= (n.1579+10G=) c.1624+10G= (n.1624+10G=) | |
| 2 | g.26482396C>G | CA531395910 | OTOF | c.1579+10G>C (n.1579+10G>C) c.1624+10G>C (n.1624+10G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26482396C>T | CA531395911 | OTOF | c.1579+10G>A (n.1579+10G>A) c.1624+10G>A (n.1624+10G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482397G>A | CA1564237 | OTOF | c.1579+9C>T (n.1579+9C>T) c.1624+9C>T (n.1624+9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.26482397G= | CA1239828848 | OTOF | c.1579+9C= (n.1579+9C=) c.1624+9C= (n.1624+9C=) | |
| 2 | g.26482397G>T | CA2658238769 | OTOF | c.1579+9C>A (n.1579+9C>A) c.1624+9C>A (n.1624+9C>A) | gnomAD v4 |
| 2 | g.26482399T>C | CA531395914 | OTOF | c.1579+7A>G (n.1579+7A>G) c.1624+7A>G (n.1624+7A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482399T= | CA1239828851 | OTOF | c.1579+7A= (n.1579+7A=) c.1624+7A= (n.1624+7A=) | |
| 2 | g.26482402T>A | CA1564238 | OTOF | c.1579+4A>T (n.1579+4A>T) c.1624+4A>T (n.1624+4A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482402T>C | CA2658238770 | OTOF | c.1579+4A>G (n.1579+4A>G) c.1624+4A>G (n.1624+4A>G) | gnomAD v4 |
| 2 | g.26482402T>G | CA2658238771 | OTOF | c.1579+4A>C (n.1579+4A>C) c.1624+4A>C (n.1624+4A>C) | gnomAD v4 |
| 2 | g.26482402T= | CA1239828852 | OTOF | c.1579+4A= (n.1579+4A=) c.1624+4A= (n.1624+4A=) | |
| 2 | g.26482403G>A | CA1564239 | OTOF | c.1579+3C>T (n.1579+3C>T) c.1624+3C>T (n.1624+3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26482403G>C | CA531395915 | OTOF | c.1579+3C>G (n.1579+3C>G) c.1624+3C>G (n.1624+3C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26482403G= | CA1239828855 | OTOF | c.1579+3C= (n.1579+3C=) c.1624+3C= (n.1624+3C=) | |
| 2 | g.26482404A>C | CA346135027 | OTOF | c.1579+2T>G (n.1579+2T>G) c.1624+2T>G (n.1624+2T>G) | |
| 2 | g.26482404A>G | CA346135025 | OTOF | c.1579+2T>C (n.1579+2T>C) c.1624+2T>C (n.1624+2T>C) | gnomAD v4 |
| 2 | g.26482404A>T | CA346135022 | OTOF | c.1579+2T>A (n.1579+2T>A) c.1624+2T>A (n.1624+2T>A) | gnomAD v4 |
| 2 | g.26482405C>A | CA346135030 | OTOF | c.1579+1G>T (n.1579+1G>T) c.1624+1G>T (n.1624+1G>T) | |
| 2 | g.26482405C>G | CA346135032 | OTOF | c.1579+1G>C (n.1579+1G>C) c.1624+1G>C (n.1624+1G>C) | |
| 2 | g.26482405C>T | CA346135035 | OTOF | c.1579+1G>A (n.1579+1G>A) c.1624+1G>A (n.1624+1G>A) | gnomAD v4 |
| 2 | g.26482406del | CA2658238772 | OTOF | c.1579+1del c.1624+1del | gnomAD v4 |
| 2 | g.26482406C>A | CA346135038 | OTOF | c.1579G>T (p.Gly527Cys) c.1624G>T (p.Gly542Cys) | |
| 2 | g.26482406C>G | CA346135040 | OTOF | c.1579G>C (p.Gly527Arg) c.1624G>C (p.Gly542Arg) | |
| 2 | g.26482406C>T | CA346135042 | OTOF | c.1579G>A (p.Gly527Ser) c.1624G>A (p.Gly542Ser) | gnomAD v4 |
| 2 | g.26482407T>A | CA346135046 | OTOF | c.1578A>T (p.Lys526Asn) c.1623A>T (p.Lys541Asn) | |
| 2 | g.26482407T>C | CA425206403 | OTOF | c.1578A>G (p.Lys526=) c.1623A>G (p.Lys541=) | gnomAD v4 |
| 2 | g.26482407T>G | CA346135048 | OTOF | c.1578A>C (p.Lys526Asn) c.1623A>C (p.Lys541Asn) | |
| 2 | g.26482408T>A | CA346135051 | OTOF | c.1577A>T (p.Lys526Ile) c.1622A>T (p.Lys541Ile) | |
| 2 | g.26482408T>C | CA346135054 | OTOF | c.1577A>G (p.Lys526Arg) c.1622A>G (p.Lys541Arg) | |
| 2 | g.26482408T>G | CA346135056 | OTOF | c.1577A>C (p.Lys526Thr) c.1622A>C (p.Lys541Thr) | gnomAD v4 |
| 2 | g.26482409T>A | CA346135059 | OTOF | c.1576A>T (p.Lys526Ter) c.1621A>T (p.Lys541Ter) | |
| 2 | g.26482409T>C | CA346135061 | OTOF | c.1576A>G (p.Lys526Glu) c.1621A>G (p.Lys541Glu) | |
| 2 | g.26482409T>G | CA346135064 | OTOF | c.1576A>C (p.Lys526Gln) c.1621A>C (p.Lys541Gln) | |
| 2 | g.26482410G>A | CA425206404 | OTOF | c.1575C>T (p.Asp525=) c.1620C>T (p.Asp540=) | |
| 2 | g.26482410G>C | CA346135067 | OTOF | c.1575C>G (p.Asp525Glu) c.1620C>G (p.Asp540Glu) | |
| 2 | g.26482410G>T | CA346135069 | OTOF | c.1575C>A (p.Asp525Glu) c.1620C>A (p.Asp540Glu) | |
| 2 | g.26482411T>A | CA346135073 | OTOF | c.1574A>T (p.Asp525Val) c.1619A>T (p.Asp540Val) | |
| 2 | g.26482411T>C | CA346135074 | OTOF | c.1574A>G (p.Asp525Gly) c.1619A>G (p.Asp540Gly) | dbSNP gnomAD v4 |
| 2 | g.26482411T>G | CA346135076 | OTOF | c.1574A>C (p.Asp525Ala) c.1619A>C (p.Asp540Ala) | |
| 2 | g.26482411T= | CA1239828858 | OTOF | c.1574A= (p.Asp525=) c.1619A= (p.Asp540=) | |
| 2 | g.26482412C>A | CA346135079 | OTOF | c.1573G>T (p.Asp525Tyr) c.1618G>T (p.Asp540Tyr) | |
| 2 | g.26482412C= | CA1239828862 | OTOF | c.1573G= (p.Asp525=) c.1618G= (p.Asp540=) | |
| 2 | g.26482412C>G | CA346135081 | OTOF | c.1573G>C (p.Asp525His) c.1618G>C (p.Asp540His) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26482412C>T | CA346135082 | OTOF | c.1573G>A (p.Asp525Asn) c.1618G>A (p.Asp540Asn) | dbSNP |
| 2 | g.26482413T>A | CA425206405 | OTOF | c.1572A>T (p.Gly524=) c.1617A>T (p.Gly539=) | |
| 2 | g.26482413T>C | CA425206406 | OTOF | c.1572A>G (p.Gly524=) c.1617A>G (p.Gly539=) | gnomAD v4 |
| 2 | g.26482413T>G | CA425206407 | OTOF | c.1572A>C (p.Gly524=) c.1617A>C (p.Gly539=) | |
| 2 | g.26482414C>A | CA346135084 | OTOF | c.1571G>T (p.Gly524Val) c.1616G>T (p.Gly539Val) | |
| 2 | g.26482414C>G | CA346135087 | OTOF | c.1571G>C (p.Gly524Ala) c.1616G>C (p.Gly539Ala) | |
| 2 | g.26482414C>T | CA346135089 | OTOF | c.1571G>A (p.Gly524Glu) c.1616G>A (p.Gly539Glu) | COSMIC |
| 2 | g.26482415C>A | CA346135093 | OTOF | c.1570G>T (p.Gly524Ter) c.1615G>T (p.Gly539Ter) | |
| 2 | g.26482415C= | CA1239828867 | OTOF | c.1570G= (p.Gly524=) c.1615G= (p.Gly539=) | |
| 2 | g.26482415C>G | CA346135095 | OTOF | c.1570G>C (p.Gly524Arg) c.1615G>C (p.Gly539Arg) | |
| 2 | g.26482415C>T | CA1564240 | OTOF | c.1570G>A (p.Gly524Arg) c.1615G>A (p.Gly539Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.26482416G>A | CA1564241 | OTOF | c.1569C>T (p.Asp523=) c.1614C>T (p.Asp538=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482416G>C | CA346135106 | OTOF | c.1569C>G (p.Asp523Glu) c.1614C>G (p.Asp538Glu) | |
| 2 | g.26482416G= | CA1239828873 | OTOF | c.1569C= (p.Asp523=) c.1614C= (p.Asp538=) | |
| 2 | g.26482416G>T | CA346135101 | OTOF | c.1569C>A (p.Asp523Glu) c.1614C>A (p.Asp538Glu) | |
| 2 | g.26482417T>A | CA346135113 | OTOF | c.1568A>T (p.Asp523Val) c.1613A>T (p.Asp538Val) | |
| 2 | g.26482417T>C | CA1564242 | OTOF | c.1568A>G (p.Asp523Gly) c.1613A>G (p.Asp538Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26482417T>G | CA346135110 | OTOF | c.1568A>C (p.Asp523Ala) c.1613A>C (p.Asp538Ala) | |
| 2 | g.26482417T= | CA1239828876 | OTOF | c.1568A= (p.Asp523=) c.1613A= (p.Asp538=) | |
| 2 | g.26482417_26482433delinsTCATTAGAAATCTTGCG | CA1239828877 | OTOF | c.1552_1568delinsCGCAAGATTTCTAATGA (p.Arg518=) c.1597_1613delinsCGCAAGATTTCTAATGA (p.Arg533=) | |
| 2 | g.26482418C>A | CA346135116 | OTOF | c.1567G>T (p.Asp523Tyr) c.1612G>T (p.Asp538Tyr) | |
| 2 | g.26482418C>G | CA346135118 | OTOF | c.1567G>C (p.Asp523His) c.1612G>C (p.Asp538His) | |
| 2 | g.26482418C>T | CA346135121 | OTOF | c.1567G>A (p.Asp523Asn) c.1612G>A (p.Asp538Asn) | |
| 2 | g.26482420_26482435del | CA767289558 | OTOF | c.1552_1567del (p.Arg518ThrfsTer15) c.1597_1612del (p.Arg533ThrfsTer15) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26482419A= | CA1239828886 | OTOF | c.1566T= (p.Asn522=) c.1611T= (p.Asn537=) | |
| 2 | g.26482419A>C | CA346135124 | OTOF | c.1566T>G (p.Asn522Lys) c.1611T>G (p.Asn537Lys) | |
| 2 | g.26482419A>G | CA425206408 | OTOF | c.1566T>C (p.Asn522=) c.1611T>C (p.Asn537=) | dbSNP gnomAD v4 |
| 2 | g.26482419A>T | CA346135126 | OTOF | c.1566T>A (p.Asn522Lys) c.1611T>A (p.Asn537Lys) | |
| 2 | g.26482420T>A | CA346135127 | OTOF | c.1565A>T (p.Asn522Ile) c.1610A>T (p.Asn537Ile) | |
| 2 | g.26482420T>C | CA346135128 | OTOF | c.1565A>G (p.Asn522Ser) c.1610A>G (p.Asn537Ser) | |
| 2 | g.26482420T>G | CA346135129 | OTOF | c.1565A>C (p.Asn522Thr) c.1610A>C (p.Asn537Thr) | |
| 2 | g.26482421T>A | CA346135130 | OTOF | c.1564A>T (p.Asn522Tyr) c.1609A>T (p.Asn537Tyr) | |
| 2 | g.26482421T>C | CA346135131 | OTOF | c.1564A>G (p.Asn522Asp) c.1609A>G (p.Asn537Asp) | |
| 2 | g.26482421T>G | CA346135132 | OTOF | c.1564A>C (p.Asn522His) c.1609A>C (p.Asn537His) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26482421T= | CA1239828888 | OTOF | c.1564A= (p.Asn522=) c.1609A= (p.Asn537=) | |
| 2 | g.26482422A>C | CA425206409 | OTOF | c.1563T>G (p.Ser521=) c.1608T>G (p.Ser536=) | |
| 2 | g.26482422A>G | CA425206411 | OTOF | c.1563T>C (p.Ser521=) c.1608T>C (p.Ser536=) | ClinVar |
| 2 | g.26482422A>T | CA425206410 | OTOF | c.1563T>A (p.Ser521=) c.1608T>A (p.Ser536=) | gnomAD v4 |
| 2 | g.26482423G>A | CA346135135 | OTOF | c.1562C>T (p.Ser521Phe) c.1607C>T (p.Ser536Phe) | |
| 2 | g.26482423G>C | CA346135133 | OTOF | c.1562C>G (p.Ser521Cys) c.1607C>G (p.Ser536Cys) | |
| 2 | g.26482423G= | CA1239828894 | OTOF | c.1562C= (p.Ser521=) c.1607C= (p.Ser536=) | |
| 2 | g.26482423G>T | CA346135134 | OTOF | c.1562C>A (p.Ser521Tyr) c.1607C>A (p.Ser536Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482424A>C | CA346135136 | OTOF | c.1561T>G (p.Ser521Ala) c.1606T>G (p.Ser536Ala) | |
| 2 | g.26482424A>G | CA346135137 | OTOF | c.1561T>C (p.Ser521Pro) c.1606T>C (p.Ser536Pro) | gnomAD v4 COSMIC |
| 2 | g.26482424A>T | CA346135138 | OTOF | c.1561T>A (p.Ser521Thr) c.1606T>A (p.Ser536Thr) | |
| 2 | g.26482425A>C | CA346135139 | OTOF | c.1560T>G (p.Ile520Met) c.1605T>G (p.Ile535Met) | |
| 2 | g.26482425A>G | CA425206412 | OTOF | c.1560T>C (p.Ile520=) c.1605T>C (p.Ile535=) | gnomAD v4 |
| 2 | g.26482425A>T | CA425206413 | OTOF | c.1560T>A (p.Ile520=) c.1605T>A (p.Ile535=) | |
| 2 | g.26482426A>C | CA346135140 | OTOF | c.1559T>G (p.Ile520Ser) c.1604T>G (p.Ile535Ser) | |
| 2 | g.26482426A>G | CA346135141 | OTOF | c.1559T>C (p.Ile520Thr) c.1604T>C (p.Ile535Thr) | |
| 2 | g.26482426A>T | CA346135142 | OTOF | c.1559T>A (p.Ile520Asn) c.1604T>A (p.Ile535Asn) | |
| 2 | g.26482427T>A | CA346135143 | OTOF | c.1558A>T (p.Ile520Phe) c.1603A>T (p.Ile535Phe) | |
| 2 | g.26482427T>C | CA346135144 | OTOF | c.1558A>G (p.Ile520Val) c.1603A>G (p.Ile535Val) | |
| 2 | g.26482427T>G | CA346135145 | OTOF | c.1558A>C (p.Ile520Leu) c.1603A>C (p.Ile535Leu) | |
| 2 | g.26482428C>A | CA346135146 | OTOF | c.1557G>T (p.Lys519Asn) c.1602G>T (p.Lys534Asn) | |
| 2 | g.26482428C>G | CA346135147 | OTOF | c.1557G>C (p.Lys519Asn) c.1602G>C (p.Lys534Asn) | gnomAD v4 COSMIC |
| 2 | g.26482428C>T | CA425206414 | OTOF | c.1557G>A (p.Lys519=) c.1602G>A (p.Lys534=) | |
| 2 | g.26482429T>A | CA346135150 | OTOF | c.1556A>T (p.Lys519Met) c.1601A>T (p.Lys534Met) | |
| 2 | g.26482429T>C | CA346135149 | OTOF | c.1556A>G (p.Lys519Arg) c.1601A>G (p.Lys534Arg) | |
| 2 | g.26482429T>G | CA346135148 | OTOF | c.1556A>C (p.Lys519Thr) c.1601A>C (p.Lys534Thr) | |
| 2 | g.26482430T>A | CA346135151 | OTOF | c.1555A>T (p.Lys519Ter) c.1600A>T (p.Lys534Ter) | |
| 2 | g.26482430T>C | CA346135152 | OTOF | c.1555A>G (p.Lys519Glu) c.1600A>G (p.Lys534Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26482430T>G | CA346135153 | OTOF | c.1555A>C (p.Lys519Gln) c.1600A>C (p.Lys534Gln) | |
| 2 | g.26482430T= | CA1239828898 | OTOF | c.1555A= (p.Lys519=) c.1600A= (p.Lys534=) | |
| 2 | g.26482431G>A | CA425206416 | OTOF | c.1554C>T (p.Arg518=) c.1599C>T (p.Arg533=) | |
| 2 | g.26482431G>C | CA425206417 | OTOF | c.1554C>G (p.Arg518=) c.1599C>G (p.Arg533=) | |
| 2 | g.26482431G>T | CA425206418 | OTOF | c.1554C>A (p.Arg518=) c.1599C>A (p.Arg533=) | |
| 2 | g.26482431_26482446del | CA2586968845 | OTOF | c.1539_1554del (p.His513GlnfsTer20) c.1584_1599del (p.His528GlnfsTer20) | ClinVar |
| 2 | g.26482432C>A | CA1564244 | OTOF | c.1553G>T (p.Arg518Leu) c.1598G>T (p.Arg533Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482432C= | CA1239828902 | OTOF | c.1553G= (p.Arg518=) c.1598G= (p.Arg533=) | |
| 2 | g.26482432C>G | CA346135154 | OTOF | c.1553G>C (p.Arg518Pro) c.1598G>C (p.Arg533Pro) | dbSNP gnomAD v4 |
| 2 | g.26482432C>T | CA1564243 | OTOF | c.1553G>A (p.Arg518His) c.1598G>A (p.Arg533His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.26482433G>A | CA1564245 | OTOF | c.1552C>T (p.Arg518Cys) c.1597C>T (p.Arg533Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482433G>C | CA346135156 | OTOF | c.1552C>G (p.Arg518Gly) c.1597C>G (p.Arg533Gly) | |
| 2 | g.26482433G= | CA1239828907 | OTOF | c.1552C= (p.Arg518=) c.1597C= (p.Arg533=) | |
| 2 | g.26482433G>T | CA346135155 | OTOF | c.1552C>A (p.Arg518Ser) c.1597C>A (p.Arg533Ser) | dbSNP gnomAD v4 |
| 2 | g.26482434C>A | CA425206419 | OTOF | c.1551G>T (p.Leu517=) c.1596G>T (p.Leu532=) | |
| 2 | g.26482434C= | CA1239828909 | OTOF | c.1551G= (p.Leu517=) c.1596G= (p.Leu532=) | |
| 2 | g.26482434C>G | CA425206420 | OTOF | c.1551G>C (p.Leu517=) c.1596G>C (p.Leu532=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482434C>T | CA1564246 | OTOF | c.1551G>A (p.Leu517=) c.1596G>A (p.Leu532=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26482435A= | CA1239828912 | OTOF | c.1550T= (p.Leu517=) c.1595T= (p.Leu532=) | |
| 2 | g.26482435A>C | CA346135157 | OTOF | c.1550T>G (p.Leu517Arg) c.1595T>G (p.Leu532Arg) | |
| 2 | g.26482435A>G | CA346135158 | OTOF | c.1550T>C (p.Leu517Pro) c.1595T>C (p.Leu532Pro) | ClinVar dbSNP |
| 2 | g.26482435A>T | CA346135159 | OTOF | c.1550T>A (p.Leu517Gln) c.1595T>A (p.Leu532Gln) | |
| 2 | g.26482436G>A | CA425206421 | OTOF | c.1549C>T (p.Leu517=) c.1594C>T (p.Leu532=) | COSMIC |
| 2 | g.26482436G>C | CA1564247 | OTOF | c.1549C>G (p.Leu517Val) c.1594C>G (p.Leu532Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482436G= | CA1239828916 | OTOF | c.1549C= (p.Leu517=) c.1594C= (p.Leu532=) | |
| 2 | g.26482436G>T | CA346135160 | OTOF | c.1549C>A (p.Leu517Met) c.1594C>A (p.Leu532Met) | |
| 2 | g.26482437G>A | CA1564248 | OTOF | c.1548C>T (p.Asp516=) c.1593C>T (p.Asp531=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26482437G>C | CA346135162 | OTOF | c.1548C>G (p.Asp516Glu) c.1593C>G (p.Asp531Glu) | |
| 2 | g.26482437G= | CA1239828920 | OTOF | c.1548C= (p.Asp516=) c.1593C= (p.Asp531=) | |
| 2 | g.26482437G>T | CA346135161 | OTOF | c.1548C>A (p.Asp516Glu) c.1593C>A (p.Asp531Glu) | |
| 2 | g.26482438T>A | CA346135163 | OTOF | c.1547A>T (p.Asp516Val) c.1592A>T (p.Asp531Val) | |
| 2 | g.26482438T>C | CA346135164 | OTOF | c.1547A>G (p.Asp516Gly) c.1592A>G (p.Asp531Gly) | |
| 2 | g.26482438T>G | CA346135165 | OTOF | c.1547A>C (p.Asp516Ala) c.1592A>C (p.Asp531Ala) | |
| 2 | g.26482439C>A | CA346135166 | OTOF | c.1546G>T (p.Asp516Tyr) c.1591G>T (p.Asp531Tyr) | gnomAD v4 |
| 2 | g.26482439C>G | CA346135167 | OTOF | c.1546G>C (p.Asp516His) c.1591G>C (p.Asp531His) | |
| 2 | g.26482439C>T | CA346135168 | OTOF | c.1546G>A (p.Asp516Asn) c.1591G>A (p.Asp531Asn) | |
| 2 | g.26482440A= | CA1239828923 | OTOF | c.1545T= (p.Ile515=) c.1590T= (p.Ile530=) | |
| 2 | g.26482440A>C | CA346135169 | OTOF | c.1545T>G (p.Ile515Met) c.1590T>G (p.Ile530Met) | |
| 2 | g.26482440A>G | CA1564249 | OTOF | c.1545T>C (p.Ile515=) c.1590T>C (p.Ile530=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26482440A>T | CA425206432 | OTOF | c.1545T>A (p.Ile515=) c.1590T>A (p.Ile530=) | |
| 2 | g.26482441A= | CA1239828930 | OTOF | c.1544T= (p.Ile515=) c.1589T= (p.Ile530=) | |
| 2 | g.26482441A>C | CA346135170 | OTOF | c.1544T>G (p.Ile515Ser) c.1589T>G (p.Ile530Ser) | |
| 2 | g.26482441A>G | CA117973 | OTOF | c.1544T>C (p.Ile515Thr) c.1589T>C (p.Ile530Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482441A>T | CA346135171 | OTOF | c.1544T>A (p.Ile515Asn) c.1589T>A (p.Ile530Asn) |